Department of Pathology and Molecular Oncology, Instituto Nacional de Cancerología, Bogotá, Colombia.
Faculty of Medicine, Universidad Cooperativa de Colombia, Villavicencio, Colombia.
Front Endocrinol (Lausanne). 2024 Jul 22;15:1398436. doi: 10.3389/fendo.2024.1398436. eCollection 2024.
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder marked by pathogenic variants in the MEN1 tumor suppressor gene, leading to tumors in the parathyroid glands, pancreas, and pituitary. The occurrence of ACTH-producing pancreatic neuroendocrine carcinoma is exceedingly rare in MEN1.
This report details a Colombian family harboring a novel MEN1 variant identified through genetic screening initiated by the index case. Affected family members exhibited primary hyperparathyroidism (PHPT) symptoms from their 20s to 50s. Uniquely, the index case developed an ACTH-secreting pancreatic neuroendocrine carcinoma, a rarity in MEN1 syndromes. Proactive screening enabled the early detection of pituitary neuroendocrine tumors (PitNETs) as microadenomas in two carriers, with subsequent surgical or pharmacological intervention based on the clinical presentation.
Our findings underscore the significance of cascade screening in facilitating the early diagnosis and individualized treatment of MEN1, contributing to better patient outcomes. Additionally, this study brings to light a novel presentation of ACTH-producing pancreatic neuroendocrine carcinoma within the MEN1 spectrum, expanding our understanding of the disease's manifestations.
多发性内分泌腺瘤病 1 型（MEN1）是一种常染色体显性遗传疾病，其特征是 MEN1 肿瘤抑制基因发生致病性变异，导致甲状旁腺、胰腺和垂体肿瘤。MEN1 中 ACTH 分泌性胰腺神经内分泌癌的发生极为罕见。
本报告详细介绍了一个哥伦比亚家族，该家族通过对索引病例进行遗传筛查发现了一种新的 MEN1 变异。受影响的家族成员从 20 多岁到 50 多岁都出现了甲状旁腺功能亢进症（PHPT）的症状。独特的是，索引病例发生了 ACTH 分泌性胰腺神经内分泌癌，这在 MEN1 综合征中极为罕见。通过主动筛查，能够在两名携带者中早期发现垂体神经内分泌肿瘤（PitNETs），并根据临床表现进行手术或药物干预。
我们的研究结果强调了级联筛查在促进 MEN1 的早期诊断和个体化治疗方面的重要性，有助于改善患者的预后。此外，本研究揭示了 MEN1 谱系中一种新的 ACTH 分泌性胰腺神经内分泌癌表现，扩展了我们对该疾病表现的认识。
